Rhythmic cortical myoclonus in Niemann–Pick disease type C
Identifieur interne : 001C59 ( Istex/Checkpoint ); précédent : 001C58; suivant : 001C60Rhythmic cortical myoclonus in Niemann–Pick disease type C
Auteurs : Laura Canafoglia [Italie] ; Marianna Bugiani [Italie] ; Graziella Uziel [Italie] ; Bernardo Dalla Bernardina [Italie] ; Claudia Ciano [Italie] ; Vidmer Scaioli [Italie] ; Giuliano Avanzini [Italie] ; Silvana Franceschetti [Italie] ; Ferruccio Panzica [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
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Abstract
We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20984
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1453">1453</biblScope><biblScope unit="page" to="1456">1456</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3B185E5AAD6E5D2804F25257C7A71488C47F3A32</idno><idno type="DOI">10.1002/mds.20984</idno><idno type="ArticleID">MDS20984</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EEG–EMG coherence</term><term>PME</term><term>action myoclonus</term><term>lipid storage</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li></settlement></list><tree><country name="Italie"><region name="Lombardie"><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name></region><name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name><name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name><name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</name><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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